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Prepublished online as a Blood First Edition Paper on May 1, 2003; DOI 10.1182/blood-2003-03-0744.
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Blood, 1 September 2003, Vol. 102, No. 5, pp. 1869-1871
NEOPLASIA Brief report
Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders
Robert Kralovics,
Andreas S. Buser,
Soon-Siong Teo,
Jörn Coers,
Andre Tichelli,
Anthonie P. C. van der Maas, and
Radek C. Skoda
From the Department of Research, Division of Hematology and Department of
Laboratory Medicine, Basel University Hospital, Switzerland; and the
Department of Internal Medicine, Medical Centre Haaglanden, The Hague, The
Netherlands.
Decreased expression of c-MPL protein in platelets, increased expression of
polycythemia rubra vera 1 (PRV-1) and nuclear factor I-B (NFIB) mRNA in
granulocytes, and loss of heterozygosity on chromosome 9p (9pLOH) were
described as molecular markers for myeloproliferative disorders (MPDs). To
assess whether these markers are clustered in subgroups of MPDs or represent
independent phenotypic variations, we simultaneously determined their status
in a cohort of MPD patients. Growth of erythropoietin-independent colonies
(EECs) was measured for comparison. We observed concordance between EECs and
PRV-1 in MPD patients across all diagnostic subclasses, but our results
indicate that EECs remain the most reliable auxiliary test for polycythemia
vera (PV). In contrast, c-MPL, NFIB, and 9pLOH constitute independent
variations. Interestingly, decreased c-MPL and elevated PRV-1 also were
observed in patients with hereditary thrombocythemia (HT) who carry a mutation
in the thrombopoietin (TPO) gene. Thus, altered c-MPL and PRV-1 expression
also can arise through a molecular mechanism different from sporadic MPD.

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